Biochemical Genetics

We diagnose, treat and manage metabolic diseases, such as:

• Amino acid disorders
• Fatty acid oxidation defects
• Organic acidurias
• Disorders of the carbohydrate metabolism, including:
  • Glycogen storage diseases
  • Lysosomal storage disorders
  • Peroxisomal disorders
  • Mitochondrial disorders
  • Neurometabolic disorders

We also assess children and youth who:

• Are referred for recurrent unexplained illnesses
• Experience developmental delay or regression
• Have neurocognitive impairment, seizures and intellectual disability associated with seizures or autism
• Have a positive family history of a metabolic disease

We also serve babies with a positive newborn screen.

Referral information

Patients need a referral from a family doctor, pediatrician or nurse practitioner.

Appointment details

Preparing for your appointment

Please bring the following to each clinic visit:

• BC care card/services card
• List of medications your child takes
• Medical or personal records, such as reports of X-rays, laboratory tests or genetic test results, if available and if this is your first clinic visit
• If your child is on a specialized diet, please bring three-day food records as instructed by the team
• If your child’s condition requires regular glucose monitoring, bring a log of the glucose levels as well as food records
• If we requested blood and urine tests, please complete them in a timely manner so that the results are available for the clinic visit
• If you have several questions, make a list to bring with you

Note: If you are unsure about what to bring, please call the clinic office. If this is your child’s first appointment, it should be done in person for assessment. Please be aware that the clinic visit may last for two hours.

If you would like an interpreter, please let us as soon as possible and we will arrange for this.

Let us know which other physicians and programs you are involved with at BC Children's Hospital and when you are due to be seen for follow-up so that we can try to coordinate appointments on the same day.

What to expect

The clinic works as a team of doctors, nurses, dietitians, a genetic counsellor and a social worker. 

At the beginning of the clinic visit, a nursing assistant will take your child or youth's weight, height and blood pressure measurements. Following this, a clinic nurse will obtain information from you and review your child or youth's medications and allergies. Your child or youth will be seen by a doctor and/or dietitian, social worker and genetic counsellor, as required.

During the clinic visit, we may arrange for other assessments, such as blood and urine testing, X-rays, MRI, and referrals to other services at BC Children’s Hospital, as needed.

Note: As BC Children’s Hospital is a teaching institution, your child or youth may be seen by a doctor in training (fellows, residents, or medical students) working in the clinic with the primary staff doctor.

Learn more about how to prepare for your visit.

Rescheduling your appointment

If your child or youth has been in contact with any infectious diseases (such as chicken pox or measles) during the three weeks before your appointment, please let us know immediately. 

We may need to reschedule your appointment for the safety of staff and other patients and families.

Contact us

We have clinics on Monday, Wednesday, Thursday (virtual only visit), and Friday each week.

Address:
1st floor, Area #5 
Ambulatory Care building
Vancouver, BC
V6H 3V4 

Phone: 604-875-2880  
Fax: 604-875-2349 
Toll free: 1-888-300-3088 ext. 2880 
Hospital Accessioning Lab: 604-875-5286, 7 a.m. to 6 p.m. 
24-hour emergency pager: 604-875-2161 - ask for the Biochemical Genetics physician on call 
Email: biochemicalclerical@cw.bc.ca